RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family

Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfectio...

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Detalhes bibliográficos
Main Authors: Quedas, Elisangela P. S., Longuini, Viviane C., Sekiya, Tomoko, Coutinho, Flavia L., Toledo, Sergio P. A., Tannuri, Uenis, Toledo, Rodrigo A.
Formato: Artigo
Idioma:Inglês
Publicado em: Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo 2012
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3328835/
https://ncbi.nlm.nih.gov/pubmed/22584707
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6061/clinics/2012(Sup01)11
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